Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 3 100451359 100451359 + Silent SNP G G T TCGA-OR-A5LJ-01A-11D-A29I-10 TCGA-OR-A5LJ-10A-01D-A29L-10 g.chr3:100451359G>T c.423G>T c.(421-423)gtG>gtT p.V141V BLCA 3 100432568 100432568 + Missense_Mutation SNP C C G TCGA-ZF-A9RN-01A-11D-A42E-08 TCGA-ZF-A9RN-10A-01D-A42H-08 g.chr3:100432568C>G c.39C>G c.(37-39)atC>atG p.I13M BLCA 3 100432575 100432575 + Nonsense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr3:100432575C>T c.46C>T c.(46-48)Caa>Taa p.Q16* BLCA 3 100432575 100432575 + Nonsense_Mutation SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr3:100432575C>T c.46C>T c.(46-48)Caa>Taa p.Q16* BLCA 3 100432661 100432661 + Silent SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr3:100432661C>T c.132C>T c.(130-132)ttC>ttT p.F44F BLCA 3 100447571 100447571 + Missense_Mutation SNP G G A TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr3:100447571G>A c.284G>A c.(283-285)aGa>aAa p.R95K BLCA 3 100451411 100451411 + Missense_Mutation SNP C C G TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr3:100451411C>G c.475C>G c.(475-477)Cag>Gag p.Q159E BLCA 3 100455446 100455446 + Missense_Mutation SNP C C T TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 g.chr3:100455446C>T c.607C>T c.(607-609)Cgt>Tgt p.R203C BLCA 3 100463681 100463681 + Missense_Mutation SNP G G C TCGA-DK-A3IV-01A-22D-A21A-08 TCGA-DK-A3IV-10A-01D-A21A-08 g.chr3:100463681G>C c.726G>C c.(724-726)caG>caC p.Q242H BLCA 3 100463742 100463742 + Nonsense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 g.chr3:100463742C>T c.787C>T c.(787-789)Cag>Tag p.Q263* BLCA 3 100467057 100467057 + Silent SNP A A T TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 g.chr3:100467057A>T c.885A>T c.(883-885)ccA>ccT p.P295P BLCA 3 100467235 100467235 + Missense_Mutation SNP G G A TCGA-4Z-AA7Y-01A-11D-A391-08 TCGA-4Z-AA7Y-10A-01D-A394-08 g.chr3:100467235G>A c.1063G>A c.(1063-1065)Ggg>Agg p.G355R BLCA 3 100467244 100467244 + Nonsense_Mutation SNP C C T TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr3:100467244C>T c.1072C>T c.(1072-1074)Caa>Taa p.Q358* BLCA 3 100467340 100467340 + Nonsense_Mutation SNP C C T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 g.chr3:100467340C>T c.1168C>T c.(1168-1170)Cag>Tag p.Q390* BRCA 3 100432553 100432553 + Silent SNP T T C TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr3:100432553T>C c.24T>C c.(22-24)agT>agC p.S8S BRCA 3 100432575 100432575 + Nonsense_Mutation SNP C C T TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 g.chr3:100432575C>T c.46C>T c.(46-48)Caa>Taa p.Q16* BRCA 3 100467135 100467135 + Silent SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr3:100467135G>A c.963G>A c.(961-963)gcG>gcA p.A321A BRCA 3 100467337 100467337 + Missense_Mutation SNP G G T TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 g.chr3:100467337G>T c.1165G>T c.(1165-1167)Ggt>Tgt p.G389C CESC 3 100451391 100451391 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr3:100451391C>T c.455C>T c.(454-456)tCt>tTt p.S152F CHOL 3 100467371 100467371 + Missense_Mutation SNP G G T TCGA-W6-AA0S-01A-11D-A417-09 TCGA-W6-AA0S-10A-01D-A41A-09 g.chr3:100467371G>T c.1199G>T c.(1198-1200)cGa>cTa p.R400L COAD 3 100432597 100432597 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:100432597G>A c.68G>A c.(67-69)cGa>cAa p.R23Q COAD 3 100432667 100432667 + Silent SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:100432667A>C c.138A>C c.(136-138)ggA>ggC p.G46G COAD 3 100447606 100447606 + Nonsense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr3:100447606C>T c.319C>T c.(319-321)Cga>Tga p.R107* COAD 3 100463721 100463721 + Nonsense_Mutation SNP C C T TCGA-AA-A00A-01A-01W-A005-10 TCGA-AA-A00A-10A-01W-A005-10 g.chr3:100463721C>T c.766C>T c.(766-768)Cag>Tag p.Q256* COAD 3 100467075 100467075 + Silent SNP T T G TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr3:100467075T>G c.903T>G c.(901-903)gcT>gcG p.A301A COAD 3 100467319 100467319 + Missense_Mutation SNP C C T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr3:100467319C>T c.1147C>T c.(1147-1149)Cgt>Tgt p.R383C COAD 3 100467326 100467326 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:100467326G>A c.1154G>A c.(1153-1155)cGt>cAt p.R385H COAD 3 100467371 100467371 + Missense_Mutation SNP G G A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr3:100467371G>A c.1199G>A c.(1198-1200)cGa>cAa p.R400Q COADREAD 3 100432597 100432597 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:100432597G>A c.68G>A c.(67-69)cGa>cAa p.R23Q COADREAD 3 100432667 100432667 + Silent SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:100432667A>C c.138A>C c.(136-138)ggA>ggC p.G46G COADREAD 3 100447606 100447606 + Nonsense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr3:100447606C>T c.319C>T c.(319-321)Cga>Tga p.R107* COADREAD 3 100463721 100463721 + Nonsense_Mutation SNP C C T TCGA-AA-A00A-01A-01W-A005-10 TCGA-AA-A00A-10A-01W-A005-10 g.chr3:100463721C>T c.766C>T c.(766-768)Cag>Tag p.Q256* COADREAD 3 100467075 100467075 + Silent SNP T T G TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr3:100467075T>G c.903T>G c.(901-903)gcT>gcG p.A301A COADREAD 3 100467198 100467198 + Silent SNP T T C TCGA-DC-6160-01A-11D-1657-10 TCGA-DC-6160-10A-01D-1657-10 g.chr3:100467198T>C c.1026T>C c.(1024-1026)gcT>gcC p.A342A COADREAD 3 100467319 100467319 + Missense_Mutation SNP C C T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr3:100467319C>T c.1147C>T c.(1147-1149)Cgt>Tgt p.R383C COADREAD 3 100467326 100467326 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:100467326G>A c.1154G>A c.(1153-1155)cGt>cAt p.R385H COADREAD 3 100467371 100467371 + Missense_Mutation SNP G G A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr3:100467371G>A c.1199G>A c.(1198-1200)cGa>cAa p.R400Q DLBC 3 100455433 100455433 + Silent SNP T T G TCGA-GR-7353-01A-11D-2210-10 TCGA-GR-7353-10A-01D-2210-10 g.chr3:100455433T>G c.594T>G c.(592-594)gcT>gcG p.A198A DLBC 3 100467168 100467168 + Missense_Mutation SNP A A T TCGA-FF-8043-01A-11D-2210-10 TCGA-FF-8043-10A-01D-2210-10 g.chr3:100467168A>T c.996A>T c.(994-996)caA>caT p.Q332H ESCA 3 100432640 100432640 + Silent SNP G G T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 g.chr3:100432640G>T c.111G>T c.(109-111)gtG>gtT p.V37V ESCA 3 100432649 100432649 + Missense_Mutation SNP G G T TCGA-2H-A9GJ-01A-11D-A37C-09 TCGA-2H-A9GJ-11A-11D-A37F-09 g.chr3:100432649G>T c.120G>T c.(118-120)atG>atT p.M40I ESCA 3 100467227 100467227 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr3:100467227G>T c.1055G>T c.(1054-1056)aGc>aTc p.S352I GBMLGG 3 100432641 100432641 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:100432641C>T c.112C>T c.(112-114)Cta>Tta p.L38L GBMLGG 3 100447624 100447624 + Nonsense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:100447624C>T c.337C>T c.(337-339)Cga>Tga p.R113* GBMLGG 3 100455466 100455466 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:100455466C>T c.627C>T c.(625-627)agC>agT p.S209S HNSC 3 100447693 100447693 + Missense_Mutation SNP C C A TCGA-F7-8298-01A-11D-2394-08 TCGA-F7-8298-10A-01D-2394-08 g.chr3:100447693C>A c.406C>A c.(406-408)Cct>Act p.P136T HNSC 3 100463729 100463729 + Silent SNP G G A TCGA-BA-5558-01A-01D-1512-08 TCGA-BA-5558-10A-01D-1512-08 g.chr3:100463729G>A c.774G>A c.(772-774)ccG>ccA p.P258P HNSC 3 100463757 100463758 + Frame_Shift_Ins INS - - A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 g.chr3:100463757_100463758insA c.802_803insA c.(802-804)tatfs p.Y268fs KIPAN 3 100432611 100432611 + Frame_Shift_Del DEL A A - TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 g.chr3:100432611delA c.82delA c.(82-84)aatfs p.N28fs KIPAN 3 100467193 100467193 + Missense_Mutation SNP G G A TCGA-B4-5836-01A-11D-1669-08 TCGA-B4-5836-10A-01D-1669-08 g.chr3:100467193G>A c.1021G>A c.(1021-1023)Gtg>Atg p.V341M KIRC 3 100432611 100432611 + Frame_Shift_Del DEL A A - TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 g.chr3:100432611delA c.82delA c.(82-84)aatfs p.N28fs KIRC 3 100467193 100467193 + Missense_Mutation SNP G G A TCGA-B4-5836-01A-11D-1669-08 TCGA-B4-5836-10A-01D-1669-08 g.chr3:100467193G>A c.1021G>A c.(1021-1023)Gtg>Atg p.V341M LGG 3 100432641 100432641 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:100432641C>T c.112C>T c.(112-114)Cta>Tta p.L38L LGG 3 100447624 100447624 + Nonsense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:100447624C>T c.337C>T c.(337-339)Cga>Tga p.R113* LGG 3 100455466 100455466 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:100455466C>T c.627C>T c.(625-627)agC>agT p.S209S LUAD 3 100438863 100438863 + Missense_Mutation SNP G G A TCGA-55-8085-01A-11D-2238-08 TCGA-55-8085-10A-01D-2238-08 g.chr3:100438863G>A c.229G>A c.(229-231)Gca>Aca p.A77T LUAD 3 100463679 100463679 + Nonsense_Mutation SNP C C T TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr3:100463679C>T c.724C>T c.(724-726)Cag>Tag p.Q242* LUAD 3 100467004 100467004 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chr3:100467004C>G c.832C>G c.(832-834)Cag>Gag p.Q278E LUAD 3 100467175 100467175 + Nonsense_Mutation SNP C C T TCGA-69-7978-01A-11D-2184-08 TCGA-69-7978-10A-01D-2184-08 g.chr3:100467175C>T c.1003C>T c.(1003-1005)Cag>Tag p.Q335* LUSC 3 100447602 100447602 + Silent SNP C C G TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 g.chr3:100447602C>G c.315C>G c.(313-315)ctC>ctG p.L105L PAAD 3 100432536 100432536 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:100432536G>A c.7G>A c.(7-9)Gga>Aga p.G3R PAAD 3 100447675 100447675 + Nonsense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:100447675G>T c.388G>T c.(388-390)Gga>Tga p.G130* PAAD 3 100455439 100455441 + In_Frame_Del DEL AGA AGA - TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 g.chr3:100455439_100455441delAGA c.600_602delAGA c.(598-603)gcagaa>gca p.E201del PRAD 3 100447586 100447586 + Missense_Mutation SNP G G C TCGA-KK-A8II-01A-11D-A364-08 TCGA-KK-A8II-11A-11D-A362-08 g.chr3:100447586G>C c.299G>C c.(298-300)aGt>aCt p.S100T READ 3 100467198 100467198 + Silent SNP T T C TCGA-DC-6160-01A-11D-1657-10 TCGA-DC-6160-10A-01D-1657-10 g.chr3:100467198T>C c.1026T>C c.(1024-1026)gcT>gcC p.A342A SKCM 3 100438853 100438853 + Silent SNP C C T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr3:100438853C>T c.219C>T c.(217-219)gaC>gaT p.D73D SKCM 3 100467173 100467173 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:100467173C>T c.1001C>T c.(1000-1002)tCt>tTt p.S334F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 3 100432575 100432575 single base substitution C T stop_gained Q16* 46C>T BLCA-US 3 100432661 100432661 single base substitution C T synonymous_variant F44F 132C>T BLCA-US 3 100463681 100463681 single base substitution G C exon_variant BLCA-US 3 100463681 100463681 single base substitution G C missense_variant Q238H 714G>C BLCA-US 3 100463681 100463681 single base substitution G C missense_variant Q242H 726G>C BLCA-US 3 100463742 100463742 single base substitution C T exon_variant BLCA-US 3 100463742 100463742 single base substitution C T stop_gained Q259* 775C>T BLCA-US 3 100463742 100463742 single base substitution C T stop_gained Q263* 787C>T BLCA-US 3 100467340 100467340 single base substitution C T exon_variant BLCA-US 3 100467340 100467340 single base substitution C T stop_gained Q386* 1156C>T BLCA-US 3 100467340 100467340 single base substitution C T stop_gained Q390* 1168C>T BLCA-US 3 100471769 100471769 single base substitution C G downstream_gene_variant BRCA-EU 3 100424207 100424207 single base substitution T G upstream_gene_variant BRCA-EU 3 100424708 100424708 single base substitution G C upstream_gene_variant BRCA-EU 3 100425259 100425259 single base substitution T A upstream_gene_variant BRCA-EU 3 100425355 100425355 single base substitution C G upstream_gene_variant BRCA-EU 3 100425635 100425635 single base substitution C G upstream_gene_variant BRCA-EU 3 100425986 100425986 single base substitution C T upstream_gene_variant BRCA-EU 3 100427545 100427545 single base substitution T C upstream_gene_variant BRCA-EU 3 100428252 100428252 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 3 100428252 100428252 single base substitution C G upstream_gene_variant BRCA-EU 3 100428252 100428252 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 3 100428252 100428252 single base substitution C T upstream_gene_variant BRCA-EU 3 100429073 100429073 single base substitution G A 5_prime_UTR_variant BRCA-EU 3 100429073 100429073 single base substitution G A intron_variant BRCA-EU 3 100429386 100429386 single base substitution C T intron_variant BRCA-EU 3 100430042 100430042 single base substitution G A intron_variant BRCA-EU 3 100431256 100431256 insertion of <=200bp - AGTA intron_variant BRCA-EU 3 100432141 100432141 insertion of <=200bp - T intron_variant BRCA-EU 3 100432933 100432933 insertion of <=200bp - C intron_variant BRCA-EU 3 100433501 100433501 single base substitution G A intron_variant BRCA-EU 3 100434901 100434901 single base substitution C G intron_variant BRCA-EU 3 100435252 100435256 deletion of <=200bp ATATA - intron_variant BRCA-EU 3 100437608 100437608 single base substitution G T intron_variant BRCA-EU 3 100437644 100437644 single base substitution C T intron_variant BRCA-EU 3 100439462 100439462 single base substitution C T intron_variant BRCA-EU 3 100440757 100440757 single base substitution G T intron_variant BRCA-EU 3 100441496 100441496 single base substitution C T intron_variant BRCA-EU 3 100444637 100444637 deletion of <=200bp A - intron_variant BRCA-EU 3 100445800 100445800 single base substitution A C intron_variant BRCA-EU 3 100447370 100447370 single base substitution C G intron_variant BRCA-EU 3 100447962 100447962 insertion of <=200bp - T downstream_gene_variant BRCA-EU 3 100447962 100447962 insertion of <=200bp - T intron_variant BRCA-EU 3 100448356 100448356 single base substitution G A downstream_gene_variant BRCA-EU 3 100448356 100448356 single base substitution G A intron_variant BRCA-EU 3 100448373 100448373 insertion of <=200bp - A downstream_gene_variant BRCA-EU 3 100448373 100448373 insertion of <=200bp - A intron_variant BRCA-EU 3 100449191 100449191 single base substitution T C downstream_gene_variant BRCA-EU 3 100449191 100449191 single base substitution T C intron_variant BRCA-EU 3 100449230 100449230 single base substitution G C downstream_gene_variant BRCA-EU 3 100449230 100449230 single base substitution G C intron_variant BRCA-EU 3 100449377 100449377 single base substitution A C downstream_gene_variant BRCA-EU 3 100449377 100449377 single base substitution A C intron_variant BRCA-EU 3 100450834 100450834 single base substitution T C downstream_gene_variant BRCA-EU 3 100450834 100450834 single base substitution T C intron_variant BRCA-EU 3 100451023 100451023 single base substitution G T downstream_gene_variant BRCA-EU 3 100451023 100451023 single base substitution G T intron_variant BRCA-EU 3 100451038 100451038 deletion of <=200bp A - downstream_gene_variant BRCA-EU 3 100451038 100451038 deletion of <=200bp A - intron_variant BRCA-EU 3 100451117 100451117 insertion of <=200bp - T downstream_gene_variant BRCA-EU 3 100451117 100451117 insertion of <=200bp - T intron_variant BRCA-EU 3 100452045 100452045 single base substitution T C downstream_gene_variant BRCA-EU 3 100452045 100452045 single base substitution T C intron_variant BRCA-EU 3 100452244 100452244 single base substitution C T downstream_gene_variant BRCA-EU 3 100452244 100452244 single base substitution C T intron_variant BRCA-EU 3 100452912 100452912 single base substitution T A downstream_gene_variant BRCA-EU 3 100452912 100452912 single base substitution T A intron_variant BRCA-EU 3 100454374 100454374 single base substitution A G downstream_gene_variant BRCA-EU 3 100454374 100454374 single base substitution A G intron_variant BRCA-EU 3 100454841 100454841 single base substitution A G downstream_gene_variant BRCA-EU 3 100454841 100454841 single base substitution A G intron_variant BRCA-EU 3 100455402 100455402 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 100455402 100455402 deletion of <=200bp T - intron_variant BRCA-EU 3 100457488 100457488 single base substitution T G intron_variant BRCA-EU 3 100457488 100457488 single base substitution T G upstream_gene_variant BRCA-EU 3 100457573 100457573 single base substitution A G intron_variant BRCA-EU 3 100457573 100457573 single base substitution A G upstream_gene_variant BRCA-EU 3 100458245 100458245 single base substitution A C intron_variant BRCA-EU 3 100458245 100458245 single base substitution A C upstream_gene_variant BRCA-EU 3 100460193 100460193 single base substitution G A intron_variant BRCA-EU 3 100460193 100460193 single base substitution G A upstream_gene_variant BRCA-EU 3 100460709 100460709 single base substitution C G intron_variant BRCA-EU 3 100460709 100460709 single base substitution C G upstream_gene_variant BRCA-EU 3 100461115 100461115 single base substitution G T intron_variant BRCA-EU 3 100461115 100461115 single base substitution G T upstream_gene_variant BRCA-EU 3 100461568 100461568 deletion of <=200bp T - exon_variant BRCA-EU 3 100461568 100461568 deletion of <=200bp T - intron_variant BRCA-EU 3 100462061 100462061 single base substitution A G exon_variant BRCA-EU 3 100462061 100462061 single base substitution A G intron_variant BRCA-EU 3 100462231 100462231 single base substitution C G exon_variant BRCA-EU 3 100462231 100462231 single base substitution C G intron_variant BRCA-EU 3 100462370 100462370 deletion of <=200bp T - exon_variant BRCA-EU 3 100462370 100462370 deletion of <=200bp T - intron_variant BRCA-EU 3 100462400 100462400 single base substitution A G exon_variant BRCA-EU 3 100462400 100462400 single base substitution A G intron_variant BRCA-EU 3 100466764 100466764 single base substitution A G intron_variant BRCA-EU 3 100467317 100467317 single base substitution C T exon_variant BRCA-EU 3 100467317 100467317 single base substitution C T missense_variant A378V 1133C>T BRCA-EU 3 100467317 100467317 single base substitution C T missense_variant A382V 1145C>T BRCA-EU 3 100469183 100469183 single base substitution C G downstream_gene_variant BRCA-EU 3 100470673 100470673 single base substitution C T downstream_gene_variant BRCA-EU 3 100471146 100471146 single base substitution T C downstream_gene_variant BRCA-EU 3 100471570 100471570 single base substitution C T downstream_gene_variant BRCA-EU 3 100471854 100471854 single base substitution C T downstream_gene_variant BRCA-EU 3 100472128 100472128 single base substitution G A downstream_gene_variant BRCA-FR 3 100425635 100425635 single base substitution C G upstream_gene_variant BRCA-FR 3 100449377 100449377 single base substitution A C downstream_gene_variant BRCA-FR 3 100449377 100449377 single base substitution A C intron_variant BRCA-FR 3 100457573 100457573 single base substitution A G intron_variant BRCA-FR 3 100457573 100457573 single base substitution A G upstream_gene_variant BRCA-FR 3 100469183 100469183 single base substitution C G downstream_gene_variant BRCA-FR 3 100472788 100472788 single base substitution A C downstream_gene_variant BRCA-UK 3 100445084 100445084 single base substitution C T intron_variant BRCA-US 3 100432553 100432553 single base substitution T C synonymous_variant S8S 24T>C BRCA-US 3 100432575 100432575 single base substitution C T stop_gained Q16* 46C>T BRCA-US 3 100467135 100467135 single base substitution G A exon_variant BRCA-US 3 100467135 100467135 single base substitution G A synonymous_variant A317A 951G>A BRCA-US 3 100467135 100467135 single base substitution G A synonymous_variant A321A 963G>A BRCA-US 3 100467337 100467337 single base substitution G T exon_variant BRCA-US 3 100467337 100467337 single base substitution G T missense_variant G385C 1153G>T BRCA-US 3 100467337 100467337 single base substitution G T missense_variant G389C 1165G>T BRCA-US 3 100471647 100471647 single base substitution C G downstream_gene_variant BTCA-JP 3 100471809 100471809 single base substitution G A downstream_gene_variant CESC-US 3 100451391 100451391 single base substitution C T downstream_gene_variant CESC-US 3 100451391 100451391 single base substitution C T missense_variant S152F 455C>T CLLE-ES 3 100457843 100457843 single base substitution C A intron_variant CLLE-ES 3 100457843 100457843 single base substitution C A upstream_gene_variant CLLE-ES 3 100458054 100458054 single base substitution A T intron_variant CLLE-ES 3 100458054 100458054 single base substitution A T upstream_gene_variant COAD-US 3 100432597 100432597 single base substitution G A missense_variant R23Q 68G>A COAD-US 3 100432667 100432667 single base substitution A C synonymous_variant G46G 138A>C COAD-US 3 100467075 100467075 single base substitution T G exon_variant COAD-US 3 100467075 100467075 single base substitution T G synonymous_variant A297A 891T>G COAD-US 3 100467075 100467075 single base substitution T G synonymous_variant A301A 903T>G COAD-US 3 100471644 100471644 single base substitution G A downstream_gene_variant COCA-CN 3 100447562 100447562 single base substitution G A missense_variant G92D 275G>A COCA-CN 3 100447731 100447731 single base substitution T G downstream_gene_variant COCA-CN 3 100447731 100447731 single base substitution T G intron_variant COCA-CN 3 100467146 100467146 single base substitution C A exon_variant COCA-CN 3 100467146 100467146 single base substitution C A missense_variant P321H 962C>A COCA-CN 3 100467146 100467146 single base substitution C A missense_variant P325H 974C>A COCA-CN 3 100472720 100472720 single base substitution A G downstream_gene_variant EOPC-DE 3 100428795 100428795 single base substitution A G intron_variant EOPC-DE 3 100428795 100428795 single base substitution A G upstream_gene_variant ESAD-UK 3 100423354 100423354 single base substitution C A upstream_gene_variant ESAD-UK 3 100425553 100425553 single base substitution C T upstream_gene_variant ESAD-UK 3 100426305 100426305 single base substitution G A upstream_gene_variant ESAD-UK 3 100427738 100427738 single base substitution C T upstream_gene_variant ESAD-UK 3 100427931 100427931 single base substitution C G upstream_gene_variant ESAD-UK 3 100428092 100428114 deletion of <=200bp CGAGAAACGGAAATACCCGCTTT - upstream_gene_variant ESAD-UK 3 100439544 100439544 single base substitution C T intron_variant ESAD-UK 3 100440193 100440193 single base substitution G A intron_variant ESAD-UK 3 100440375 100440375 single base substitution A C intron_variant ESAD-UK 3 100442186 100442186 single base substitution T C intron_variant ESAD-UK 3 100444238 100444238 single base substitution G A intron_variant ESAD-UK 3 100444867 100444867 single base substitution C T intron_variant ESAD-UK 3 100450586 100450586 single base substitution A T downstream_gene_variant ESAD-UK 3 100450586 100450586 single base substitution A T intron_variant ESAD-UK 3 100451612 100451612 single base substitution G C downstream_gene_variant ESAD-UK 3 100451612 100451612 single base substitution G C intron_variant ESAD-UK 3 100452428 100452428 single base substitution C T downstream_gene_variant ESAD-UK 3 100452428 100452428 single base substitution C T intron_variant ESAD-UK 3 100452912 100452912 single base substitution T A downstream_gene_variant ESAD-UK 3 100452912 100452912 single base substitution T A intron_variant ESAD-UK 3 100455129 100455129 single base substitution A C downstream_gene_variant ESAD-UK 3 100455129 100455129 single base substitution A C intron_variant ESAD-UK 3 100459629 100459629 deletion of <=200bp T - intron_variant ESAD-UK 3 100459629 100459629 deletion of <=200bp T - upstream_gene_variant ESAD-UK 3 100460262 100460262 single base substitution T A intron_variant ESAD-UK 3 100460262 100460262 single base substitution T A upstream_gene_variant ESAD-UK 3 100461210 100461210 single base substitution G C intron_variant ESAD-UK 3 100461210 100461210 single base substitution G C upstream_gene_variant ESAD-UK 3 100461739 100461739 single base substitution A C exon_variant ESAD-UK 3 100461739 100461739 single base substitution A C intron_variant ESAD-UK 3 100463663 100463663 single base substitution G C exon_variant ESAD-UK 3 100463663 100463663 single base substitution G C intron_variant ESAD-UK 3 100463834 100463834 insertion of <=200bp - T intron_variant ESAD-UK 3 100465463 100465464 deletion of <=200bp AC - intron_variant ESAD-UK 3 100467543 100467543 single base substitution C T 3_prime_UTR_variant ESAD-UK 3 100467543 100467543 single base substitution C T exon_variant ESAD-UK 3 100471886 100471886 deletion of <=200bp T - downstream_gene_variant ESAD-UK 3 100471939 100471939 single base substitution C T downstream_gene_variant ESCA-CN 3 100451233 100451233 single base substitution G A downstream_gene_variant ESCA-CN 3 100451233 100451233 single base substitution G A intron_variant ESCA-CN 3 100468558 100468558 single base substitution G C downstream_gene_variant ESCA-CN 3 100470313 100470313 single base substitution A T downstream_gene_variant ESCA-CN 3 100470459 100470459 single base substitution C T downstream_gene_variant ESCA-CN 3 100470474 100470474 single base substitution G A downstream_gene_variant GACA-CN 3 100447666 100447668 deletion of <=200bp GGA - inframe_deletion G127 LAML-KR 3 100428568 100428568 single base substitution A G 5_prime_UTR_variant LAML-KR 3 100428568 100428568 single base substitution A G intron_variant LAML-KR 3 100428568 100428568 single base substitution A G upstream_gene_variant LAML-KR 3 100467018 100467018 single base substitution T C exon_variant LAML-KR 3 100467018 100467018 single base substitution T C synonymous_variant P278P 834T>C LAML-KR 3 100467018 100467018 single base substitution T C synonymous_variant P282P 846T>C LICA-CN 3 100455513 100455513 single base substitution A T downstream_gene_variant LICA-CN 3 100455513 100455513 single base substitution A T missense_variant Q225L 674A>T LICA-CN 3 100470501 100470501 single base substitution C A downstream_gene_variant LICA-FR 3 100423762 100423762 single base substitution C T upstream_gene_variant LICA-FR 3 100430968 100430968 single base substitution A G intron_variant LICA-FR 3 100442016 100442016 single base substitution G C intron_variant LICA-FR 3 100453672 100453672 single base substitution A G downstream_gene_variant LICA-FR 3 100453672 100453672 single base substitution A G intron_variant LICA-FR 3 100466579 100466579 single base substitution A G intron_variant LICA-FR 3 100470448 100470448 single base substitution T A downstream_gene_variant LICA-FR 3 100471076 100471076 single base substitution G A downstream_gene_variant LIHC-US 3 100467366 100467366 single base substitution T G exon_variant LIHC-US 3 100467366 100467366 single base substitution T G synonymous_variant G394G 1182T>G LIHC-US 3 100467366 100467366 single base substitution T G synonymous_variant G398G 1194T>G LINC-JP 3 100438568 100438568 single base substitution C G intron_variant LINC-JP 3 100438598 100438598 single base substitution G A intron_variant LINC-JP 3 100438849 100438849 single base substitution C T missense_variant S72F 215C>T LINC-JP 3 100438866 100438866 single base substitution A G missense_variant I78V 232A>G LINC-JP 3 100447588 100447588 single base substitution C T stop_gained Q101* 301C>T LINC-JP 3 100453275 100453275 single base substitution C G downstream_gene_variant LINC-JP 3 100453275 100453275 single base substitution C G intron_variant LINC-JP 3 100466197 100466197 single base substitution T A intron_variant LINC-JP 3 100467388 100467388 single base substitution A G 3_prime_UTR_variant LINC-JP 3 100467388 100467388 single base substitution A G exon_variant LINC-JP 3 100471731 100471731 single base substitution C T downstream_gene_variant LIRI-JP 3 100423603 100423603 single base substitution C T upstream_gene_variant LIRI-JP 3 100429283 100429303 deletion of <=200bp CTTGCTGCACTGCCTTTGAGG - intron_variant LIRI-JP 3 100430809 100430809 single base substitution C G intron_variant LIRI-JP 3 100430844 100430844 single base substitution A G intron_variant LIRI-JP 3 100432695 100432695 single base substitution A G missense_variant I56V 166A>G LIRI-JP 3 100432696 100432696 single base substitution T G missense_variant I56R 167T>G LIRI-JP 3 100433003 100433003 single base substitution T C intron_variant LIRI-JP 3 100433293 100433293 single base substitution A G intron_variant LIRI-JP 3 100435021 100435021 single base substitution A G intron_variant LIRI-JP 3 100435111 100435111 single base substitution A G intron_variant LIRI-JP 3 100435607 100435607 single base substitution T G intron_variant LIRI-JP 3 100440341 100440341 single base substitution A T intron_variant LIRI-JP 3 100441435 100441435 single base substitution G A intron_variant LIRI-JP 3 100441943 100441943 single base substitution A G intron_variant LIRI-JP 3 100441946 100441946 single base substitution A G intron_variant LIRI-JP 3 100441958 100441958 deletion of <=200bp A - intron_variant LIRI-JP 3 100441971 100441971 single base substitution A C intron_variant LIRI-JP 3 100442195 100442195 single base substitution A T intron_variant LIRI-JP 3 100443427 100443427 single base substitution A G intron_variant LIRI-JP 3 100444650 100444650 single base substitution A G intron_variant LIRI-JP 3 100444856 100444856 single base substitution T C intron_variant LIRI-JP 3 100447103 100447103 single base substitution A G intron_variant LIRI-JP 3 100447973 100447973 single base substitution A G downstream_gene_variant LIRI-JP 3 100447973 100447973 single base substitution A G intron_variant LIRI-JP 3 100447973 100447973 single base substitution A T downstream_gene_variant LIRI-JP 3 100447973 100447973 single base substitution A T intron_variant LIRI-JP 3 100448281 100448281 single base substitution C A downstream_gene_variant LIRI-JP 3 100448281 100448281 single base substitution C A intron_variant LIRI-JP 3 100449740 100449753 deletion of <=200bp GTAAGACTGACGTG - downstream_gene_variant LIRI-JP 3 100449740 100449753 deletion of <=200bp GTAAGACTGACGTG - intron_variant LIRI-JP 3 100450587 100450587 single base substitution G A downstream_gene_variant LIRI-JP 3 100450587 100450587 single base substitution G A intron_variant LIRI-JP 3 100453714 100453714 single base substitution A G downstream_gene_variant LIRI-JP 3 100453714 100453714 single base substitution A G intron_variant LIRI-JP 3 100455446 100455446 single base substitution C G downstream_gene_variant LIRI-JP 3 100455446 100455446 single base substitution C G missense_variant R203G 607C>G LIRI-JP 3 100459716 100459716 single base substitution A G intron_variant LIRI-JP 3 100459716 100459716 single base substitution A G upstream_gene_variant LIRI-JP 3 100460738 100460738 single base substitution A G intron_variant LIRI-JP 3 100460738 100460738 single base substitution A G upstream_gene_variant LIRI-JP 3 100460763 100460763 single base substitution A T intron_variant LIRI-JP 3 100460763 100460763 single base substitution A T upstream_gene_variant LIRI-JP 3 100462582 100462582 deletion of <=200bp T - exon_variant LIRI-JP 3 100462582 100462582 deletion of <=200bp T - intron_variant LIRI-JP 3 100463422 100463422 single base substitution A T exon_variant LIRI-JP 3 100463422 100463422 single base substitution A T intron_variant LIRI-JP 3 100464174 100464174 single base substitution A G intron_variant LIRI-JP 3 100466036 100466036 single base substitution A G intron_variant LIRI-JP 3 100466859 100466859 single base substitution C G intron_variant LIRI-JP 3 100467325 100467325 single base substitution C T exon_variant LIRI-JP 3 100467325 100467325 single base substitution C T missense_variant R381C 1141C>T LIRI-JP 3 100467325 100467325 single base substitution C T missense_variant R385C 1153C>T LIRI-JP 3 100470019 100470019 single base substitution C T downstream_gene_variant LIRI-JP 3 100470865 100470865 single base substitution T A downstream_gene_variant LIRI-JP 3 100471236 100471236 single base substitution C T downstream_gene_variant LIRI-JP 3 100471714 100471714 single base substitution T G downstream_gene_variant LUSC-KR 3 100426503 100426503 single base substitution C A upstream_gene_variant LUSC-KR 3 100427591 100427591 single base substitution T A upstream_gene_variant LUSC-KR 3 100433061 100433061 single base substitution G C intron_variant LUSC-KR 3 100433761 100433761 single base substitution T C intron_variant LUSC-KR 3 100435407 100435407 single base substitution G A intron_variant LUSC-KR 3 100435525 100435525 single base substitution C G intron_variant LUSC-KR 3 100437339 100437339 single base substitution G A intron_variant LUSC-KR 3 100438784 100438784 single base substitution A G intron_variant LUSC-KR 3 100446770 100446770 single base substitution G T intron_variant LUSC-KR 3 100448400 100448400 single base substitution C G downstream_gene_variant LUSC-KR 3 100448400 100448400 single base substitution C G intron_variant LUSC-KR 3 100452528 100452528 single base substitution G A downstream_gene_variant LUSC-KR 3 100452528 100452528 single base substitution G A intron_variant LUSC-KR 3 100463084 100463084 single base substitution A C exon_variant LUSC-KR 3 100463084 100463084 single base substitution A C intron_variant LUSC-KR 3 100463607 100463607 single base substitution C G exon_variant LUSC-KR 3 100463607 100463607 single base substitution C G intron_variant LUSC-KR 3 100463651 100463651 single base substitution T G exon_variant LUSC-KR 3 100463651 100463651 single base substitution T G intron_variant LUSC-KR 3 100468117 100468117 single base substitution C A downstream_gene_variant LUSC-KR 3 100468500 100468500 single base substitution C T downstream_gene_variant LUSC-KR 3 100470655 100470655 single base substitution C A downstream_gene_variant LUSC-US 3 100447602 100447602 single base substitution C G synonymous_variant L105L 315C>G LUSC-US 3 100471703 100471703 single base substitution A T downstream_gene_variant LUSC-US 3 100471739 100471739 single base substitution C A downstream_gene_variant LUSC-US 3 100471741 100471741 single base substitution G C downstream_gene_variant LUSC-US 3 100472662 100472662 single base substitution C A downstream_gene_variant MALY-DE 3 100423805 100423805 single base substitution A T upstream_gene_variant MALY-DE 3 100423972 100423972 single base substitution A T upstream_gene_variant MALY-DE 3 100425359 100425359 single base substitution G A upstream_gene_variant MALY-DE 3 100430546 100430546 single base substitution T G intron_variant MALY-DE 3 100430610 100430610 single base substitution T G intron_variant MALY-DE 3 100439784 100439784 insertion of <=200bp - T intron_variant MALY-DE 3 100445335 100445335 single base substitution T A intron_variant MALY-DE 3 100445626 100445626 single base substitution T G intron_variant MALY-DE 3 100455740 100455740 single base substitution T G downstream_gene_variant MALY-DE 3 100455740 100455740 single base substitution T G intron_variant MALY-DE 3 100468390 100468390 single base substitution T C downstream_gene_variant MELA-AU 3 100423651 100423651 single base substitution G A upstream_gene_variant MELA-AU 3 100423828 100423828 single base substitution G A upstream_gene_variant MELA-AU 3 100424037 100424037 single base substitution C T upstream_gene_variant MELA-AU 3 100424164 100424164 single base substitution C T upstream_gene_variant MELA-AU 3 100424168 100424168 single base substitution A G upstream_gene_variant MELA-AU 3 100424248 100424248 single base substitution G A upstream_gene_variant MELA-AU 3 100424504 100424504 single base substitution C T upstream_gene_variant MELA-AU 3 100424761 100424761 single base substitution G A upstream_gene_variant MELA-AU 3 100424961 100424961 single base substitution G A upstream_gene_variant MELA-AU 3 100425344 100425344 single base substitution G A upstream_gene_variant MELA-AU 3 100425350 100425350 single base substitution C T upstream_gene_variant MELA-AU 3 100425363 100425363 single base substitution G A upstream_gene_variant MELA-AU 3 100425495 100425495 single base substitution G A upstream_gene_variant MELA-AU 3 100425724 100425724 single base substitution C T upstream_gene_variant MELA-AU 3 100425818 100425818 single base substitution C T upstream_gene_variant MELA-AU 3 100425819 100425819 single base substitution T A upstream_gene_variant MELA-AU 3 100425881 100425881 single base substitution T G upstream_gene_variant MELA-AU 3 100426009 100426009 single base substitution C T upstream_gene_variant MELA-AU 3 100426153 100426153 single base substitution G A upstream_gene_variant MELA-AU 3 100426479 100426480 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 100426549 100426549 single base substitution C T upstream_gene_variant MELA-AU 3 100426646 100426646 single base substitution G A upstream_gene_variant MELA-AU 3 100426949 100426949 single base substitution C T upstream_gene_variant MELA-AU 3 100427158 100427158 single base substitution C T upstream_gene_variant MELA-AU 3 100427247 100427247 single base substitution C T upstream_gene_variant MELA-AU 3 100427297 100427297 single base substitution C T upstream_gene_variant MELA-AU 3 100427346 100427346 single base substitution A G upstream_gene_variant MELA-AU 3 100427622 100427622 single base substitution C T upstream_gene_variant MELA-AU 3 100428101 100428101 single base substitution G A upstream_gene_variant MELA-AU 3 100428116 100428116 single base substitution G A upstream_gene_variant MELA-AU 3 100428126 100428126 single base substitution G A upstream_gene_variant MELA-AU 3 100428136 100428136 single base substitution G A upstream_gene_variant MELA-AU 3 100428185 100428185 single base substitution C T upstream_gene_variant MELA-AU 3 100428409 100428410 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 3 100428409 100428410 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 100428409 100428410 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 100430728 100430728 single base substitution C T intron_variant MELA-AU 3 100430887 100430887 single base substitution C T intron_variant MELA-AU 3 100431176 100431176 single base substitution C T intron_variant MELA-AU 3 100431272 100431272 single base substitution G A intron_variant MELA-AU 3 100431444 100431444 single base substitution T G intron_variant MELA-AU 3 100431448 100431448 single base substitution C T intron_variant MELA-AU 3 100431524 100431524 single base substitution C T intron_variant MELA-AU 3 100432083 100432083 single base substitution C T intron_variant MELA-AU 3 100432115 100432115 single base substitution G C intron_variant MELA-AU 3 100432521 100432521 single base substitution G A 5_prime_UTR_variant MELA-AU 3 100432593 100432593 single base substitution C T missense_variant R22W 64C>T MELA-AU 3 100432661 100432661 single base substitution C T synonymous_variant F44F 132C>T MELA-AU 3 100432753 100432753 single base substitution A T intron_variant MELA-AU 3 100433092 100433092 single base substitution C T intron_variant MELA-AU 3 100433156 100433156 single base substitution C T intron_variant MELA-AU 3 100433228 100433228 single base substitution C T intron_variant MELA-AU 3 100433317 100433317 single base substitution C T intron_variant MELA-AU 3 100434225 100434225 single base substitution C T intron_variant MELA-AU 3 100434911 100434911 single base substitution G A intron_variant MELA-AU 3 100434929 100434929 single base substitution C T intron_variant MELA-AU 3 100435383 100435383 single base substitution C T intron_variant MELA-AU 3 100435469 100435469 single base substitution C T intron_variant MELA-AU 3 100435579 100435579 single base substitution G C intron_variant MELA-AU 3 100435729 100435729 single base substitution C T intron_variant MELA-AU 3 100436260 100436260 single base substitution G A intron_variant MELA-AU 3 100437088 100437088 single base substitution C T intron_variant MELA-AU 3 100437339 100437339 single base substitution G A intron_variant MELA-AU 3 100437777 100437777 single base substitution C T intron_variant MELA-AU 3 100438015 100438015 single base substitution G A intron_variant MELA-AU 3 100440639 100440639 single base substitution C T intron_variant MELA-AU 3 100441316 100441316 single base substitution G A intron_variant MELA-AU 3 100441978 100441978 single base substitution G A intron_variant MELA-AU 3 100442556 100442556 single base substitution C T intron_variant MELA-AU 3 100442833 100442833 single base substitution C T intron_variant MELA-AU 3 100443241 100443241 single base substitution T A intron_variant MELA-AU 3 100444332 100444332 single base substitution C T intron_variant MELA-AU 3 100444449 100444449 single base substitution C T intron_variant MELA-AU 3 100445187 100445188 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 100446713 100446713 single base substitution C T intron_variant MELA-AU 3 100446918 100446918 single base substitution T C intron_variant MELA-AU 3 100447241 100447241 single base substitution T C intron_variant MELA-AU 3 100447379 100447379 single base substitution C T intron_variant MELA-AU 3 100447694 100447694 single base substitution C T downstream_gene_variant MELA-AU 3 100447694 100447694 single base substitution C T missense_variant P136L 407C>T MELA-AU 3 100447850 100447850 single base substitution T C downstream_gene_variant MELA-AU 3 100447850 100447850 single base substitution T C intron_variant MELA-AU 3 100448229 100448229 single base substitution C T downstream_gene_variant MELA-AU 3 100448229 100448229 single base substitution C T intron_variant MELA-AU 3 100448230 100448230 single base substitution C T downstream_gene_variant MELA-AU 3 100448230 100448230 single base substitution C T intron_variant MELA-AU 3 100448435 100448435 single base substitution A T downstream_gene_variant MELA-AU 3 100448435 100448435 single base substitution A T intron_variant MELA-AU 3 100448708 100448708 single base substitution G T downstream_gene_variant MELA-AU 3 100448708 100448708 single base substitution G T intron_variant MELA-AU 3 100448903 100448903 single base substitution C T downstream_gene_variant MELA-AU 3 100448903 100448903 single base substitution C T intron_variant MELA-AU 3 100448915 100448915 single base substitution C T downstream_gene_variant MELA-AU 3 100448915 100448915 single base substitution C T intron_variant MELA-AU 3 100450437 100450437 single base substitution C T downstream_gene_variant MELA-AU 3 100450437 100450437 single base substitution C T intron_variant MELA-AU 3 100450721 100450721 single base substitution C T downstream_gene_variant MELA-AU 3 100450721 100450721 single base substitution C T intron_variant MELA-AU 3 100451308 100451308 single base substitution G A downstream_gene_variant MELA-AU 3 100451308 100451308 single base substitution G A intron_variant MELA-AU 3 100451379 100451379 single base substitution C T downstream_gene_variant MELA-AU 3 100451379 100451379 single base substitution C T missense_variant S148F 443C>T MELA-AU 3 100451800 100451800 single base substitution G A downstream_gene_variant MELA-AU 3 100451800 100451800 single base substitution G A intron_variant MELA-AU 3 100452760 100452760 single base substitution T G downstream_gene_variant MELA-AU 3 100452760 100452760 single base substitution T G intron_variant MELA-AU 3 100452765 100452765 single base substitution A T downstream_gene_variant MELA-AU 3 100452765 100452765 single base substitution A T intron_variant MELA-AU 3 100452826 100452826 single base substitution C T downstream_gene_variant MELA-AU 3 100452826 100452826 single base substitution C T intron_variant MELA-AU 3 100452927 100452927 single base substitution T C downstream_gene_variant MELA-AU 3 100452927 100452927 single base substitution T C intron_variant MELA-AU 3 100454412 100454412 single base substitution A G downstream_gene_variant MELA-AU 3 100454412 100454412 single base substitution A G intron_variant MELA-AU 3 100456035 100456035 single base substitution A T downstream_gene_variant MELA-AU 3 100456035 100456035 single base substitution A T intron_variant MELA-AU 3 100456297 100456298 multiple base substitution (>=2bp and <=200bp) CT AC downstream_gene_variant MELA-AU 3 100456297 100456298 multiple base substitution (>=2bp and <=200bp) CT AC intron_variant MELA-AU 3 100456399 100456399 single base substitution T A downstream_gene_variant MELA-AU 3 100456399 100456399 single base substitution T A intron_variant MELA-AU 3 100456399 100456399 single base substitution T A upstream_gene_variant MELA-AU 3 100456761 100456761 single base substitution G A intron_variant MELA-AU 3 100456761 100456761 single base substitution G A upstream_gene_variant MELA-AU 3 100457642 100457642 single base substitution A G intron_variant MELA-AU 3 100457642 100457642 single base substitution A G upstream_gene_variant MELA-AU 3 100458297 100458297 single base substitution G T intron_variant MELA-AU 3 100458297 100458297 single base substitution G T upstream_gene_variant MELA-AU 3 100459358 100459358 single base substitution C A intron_variant MELA-AU 3 100459358 100459358 single base substitution C A upstream_gene_variant MELA-AU 3 100460439 100460439 single base substitution T A intron_variant MELA-AU 3 100460439 100460439 single base substitution T A upstream_gene_variant MELA-AU 3 100460601 100460601 single base substitution C T intron_variant MELA-AU 3 100460601 100460601 single base substitution C T upstream_gene_variant MELA-AU 3 100460942 100460942 single base substitution G A intron_variant MELA-AU 3 100460942 100460942 single base substitution G A upstream_gene_variant MELA-AU 3 100461052 100461052 single base substitution C T intron_variant MELA-AU 3 100461052 100461052 single base substitution C T upstream_gene_variant MELA-AU 3 100461579 100461579 single base substitution T A exon_variant MELA-AU 3 100461579 100461579 single base substitution T A intron_variant MELA-AU 3 100462104 100462104 single base substitution A G exon_variant MELA-AU 3 100462104 100462104 single base substitution A G intron_variant MELA-AU 3 100462447 100462447 single base substitution T C exon_variant MELA-AU 3 100462447 100462447 single base substitution T C intron_variant MELA-AU 3 100462911 100462911 single base substitution T C exon_variant MELA-AU 3 100462911 100462911 single base substitution T C intron_variant MELA-AU 3 100462913 100462913 single base substitution G T exon_variant MELA-AU 3 100462913 100462913 single base substitution G T intron_variant MELA-AU 3 100462969 100462970 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 3 100462969 100462970 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 100463448 100463448 single base substitution C T exon_variant MELA-AU 3 100463448 100463448 single base substitution C T intron_variant MELA-AU 3 100465148 100465148 single base substitution C T intron_variant MELA-AU 3 100465376 100465376 single base substitution C T intron_variant MELA-AU 3 100467076 100467076 single base substitution C T exon_variant MELA-AU 3 100467076 100467076 single base substitution C T missense_variant P298S 892C>T MELA-AU 3 100467076 100467076 single base substitution C T missense_variant P302S 904C>T MELA-AU 3 100467561 100467561 single base substitution C T 3_prime_UTR_variant MELA-AU 3 100467561 100467561 single base substitution C T exon_variant MELA-AU 3 100467658 100467659 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 3 100467658 100467659 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 3 100467998 100467998 single base substitution C T downstream_gene_variant MELA-AU 3 100468043 100468043 single base substitution A T downstream_gene_variant MELA-AU 3 100468138 100468138 single base substitution T C downstream_gene_variant MELA-AU 3 100468411 100468411 insertion of <=200bp - TAGC downstream_gene_variant MELA-AU 3 100469364 100469364 single base substitution C T downstream_gene_variant MELA-AU 3 100469405 100469405 single base substitution A G downstream_gene_variant MELA-AU 3 100470516 100470516 single base substitution T A downstream_gene_variant MELA-AU 3 100470603 100470603 single base substitution A G downstream_gene_variant MELA-AU 3 100471227 100471227 single base substitution T C downstream_gene_variant MELA-AU 3 100471238 100471238 single base substitution G A downstream_gene_variant MELA-AU 3 100471947 100471947 single base substitution C T downstream_gene_variant MELA-AU 3 100471950 100471950 single base substitution C T downstream_gene_variant MELA-AU 3 100472560 100472560 single base substitution T A downstream_gene_variant MELA-AU 3 100472597 100472597 single base substitution C T downstream_gene_variant ORCA-IN 3 100428252 100428252 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant ORCA-IN 3 100428252 100428252 single base substitution C T upstream_gene_variant ORCA-IN 3 100433098 100433098 single base substitution C T intron_variant ORCA-IN 3 100466331 100466331 single base substitution T G intron_variant ORCA-IN 3 100468107 100468107 single base substitution T G downstream_gene_variant OV-AU 3 100423406 100423406 single base substitution A G upstream_gene_variant OV-AU 3 100429049 100429049 single base substitution C T 5_prime_UTR_variant OV-AU 3 100429049 100429049 single base substitution C T intron_variant OV-AU 3 100432058 100432058 single base substitution C T intron_variant OV-AU 3 100434859 100434859 single base substitution G A intron_variant OV-AU 3 100437979 100437979 single base substitution T G intron_variant OV-AU 3 100439689 100439689 single base substitution A G intron_variant OV-AU 3 100442053 100442053 single base substitution G C intron_variant OV-AU 3 100453036 100453036 single base substitution A G downstream_gene_variant OV-AU 3 100453036 100453036 single base substitution A G intron_variant OV-AU 3 100456782 100456782 single base substitution A G intron_variant OV-AU 3 100456782 100456782 single base substitution A G upstream_gene_variant OV-AU 3 100464020 100464020 single base substitution A G intron_variant OV-AU 3 100470895 100470895 single base substitution A T downstream_gene_variant PACA-AU 3 100424575 100424575 single base substitution C T upstream_gene_variant PACA-AU 3 100425547 100425547 deletion of <=200bp T - upstream_gene_variant PACA-AU 3 100432244 100432244 single base substitution C G intron_variant PACA-AU 3 100435352 100435352 single base substitution C T intron_variant PACA-AU 3 100438052 100438052 single base substitution C T intron_variant PACA-AU 3 100444508 100444508 single base substitution G C intron_variant PACA-AU 3 100447826 100447826 single base substitution T C downstream_gene_variant PACA-AU 3 100447826 100447826 single base substitution T C intron_variant PACA-AU 3 100456901 100456901 single base substitution G A intron_variant PACA-AU 3 100456901 100456901 single base substitution G A upstream_gene_variant PACA-AU 3 100463652 100463653 deletion of <=200bp TG - exon_variant PACA-AU 3 100463652 100463653 deletion of <=200bp TG - intron_variant PACA-AU 3 100463652 100463655 deletion of <=200bp TGTG - exon_variant PACA-AU 3 100463652 100463655 deletion of <=200bp TGTG - intron_variant PACA-AU 3 100465067 100465067 single base substitution C T intron_variant PACA-AU 3 100465075 100465075 single base substitution C T intron_variant PACA-AU 3 100469332 100469332 single base substitution G T downstream_gene_variant PACA-AU 3 100470939 100470939 single base substitution A G downstream_gene_variant PACA-AU 3 100471892 100471892 single base substitution T C downstream_gene_variant PACA-AU 3 100472748 100472748 deletion of <=200bp A - downstream_gene_variant PACA-CA 3 100428135 100428135 deletion of <=200bp G - upstream_gene_variant PACA-CA 3 100432141 100432141 single base substitution T A intron_variant PACA-CA 3 100433412 100433412 deletion of <=200bp T - intron_variant PACA-CA 3 100433478 100433478 single base substitution T A intron_variant PACA-CA 3 100440253 100440253 single base substitution C T intron_variant PACA-CA 3 100446218 100446218 single base substitution G C intron_variant PACA-CA 3 100454308 100454308 single base substitution A G downstream_gene_variant PACA-CA 3 100454308 100454308 single base substitution A G intron_variant PACA-CA 3 100454736 100454736 single base substitution A T downstream_gene_variant PACA-CA 3 100454736 100454736 single base substitution A T intron_variant PACA-CA 3 100456384 100456384 single base substitution G A downstream_gene_variant PACA-CA 3 100456384 100456384 single base substitution G A intron_variant PACA-CA 3 100456384 100456384 single base substitution G A upstream_gene_variant PACA-CA 3 100459890 100459890 single base substitution A T intron_variant PACA-CA 3 100459890 100459890 single base substitution A T upstream_gene_variant PACA-CA 3 100465787 100465787 single base substitution T C intron_variant PACA-CA 3 100466313 100466320 deletion of <=200bp AGAGATAA - intron_variant PACA-CA 3 100469397 100469397 single base substitution G A downstream_gene_variant PACA-CA 3 100469923 100469923 single base substitution G T downstream_gene_variant PACA-CA 3 100469924 100469924 single base substitution C T downstream_gene_variant PAEN-IT 3 100449126 100449126 single base substitution G C downstream_gene_variant PAEN-IT 3 100449126 100449126 single base substitution G C intron_variant PAEN-IT 3 100449135 100449135 single base substitution T C downstream_gene_variant PAEN-IT 3 100449135 100449135 single base substitution T C intron_variant PBCA-DE 3 100432753 100432753 single base substitution A T intron_variant PBCA-DE 3 100442919 100442919 single base substitution A G intron_variant PBCA-DE 3 100455132 100455132 single base substitution G A downstream_gene_variant PBCA-DE 3 100455132 100455132 single base substitution G A intron_variant PBCA-DE 3 100456520 100456520 single base substitution A T intron_variant PBCA-DE 3 100456520 100456520 single base substitution A T upstream_gene_variant PBCA-DE 3 100468806 100468826 deletion of <=200bp TAAAAAATTGAAGTTTAAATA - downstream_gene_variant PRAD-CA 3 100427011 100427011 single base substitution G A upstream_gene_variant PRAD-CA 3 100436665 100436665 single base substitution C G intron_variant PRAD-CA 3 100448664 100448664 single base substitution T G downstream_gene_variant PRAD-CA 3 100448664 100448664 single base substitution T G intron_variant PRAD-CA 3 100451549 100451549 single base substitution G A downstream_gene_variant PRAD-CA 3 100451549 100451549 single base substitution G A intron_variant PRAD-CA 3 100453975 100453975 single base substitution G A downstream_gene_variant PRAD-CA 3 100453975 100453975 single base substitution G A intron_variant PRAD-CA 3 100463502 100463502 single base substitution C T exon_variant PRAD-CA 3 100463502 100463502 single base substitution C T intron_variant PRAD-CA 3 100465488 100465488 single base substitution T A intron_variant PRAD-UK 3 100443680 100443680 single base substitution C T intron_variant PRAD-UK 3 100448852 100448852 deletion of <=200bp A - downstream_gene_variant PRAD-UK 3 100448852 100448852 deletion of <=200bp A - intron_variant PRAD-UK 3 100450129 100450129 single base substitution T A downstream_gene_variant PRAD-UK 3 100450129 100450129 single base substitution T A intron_variant PRAD-UK 3 100450847 100450847 single base substitution T C downstream_gene_variant PRAD-UK 3 100450847 100450847 single base substitution T C intron_variant READ-US 3 100432698 100432698 single base substitution A C missense_variant K57Q 169A>C RECA-EU 3 100433273 100433273 single base substitution G A intron_variant RECA-EU 3 100441629 100441629 single base substitution G A intron_variant RECA-EU 3 100468798 100468798 single base substitution G A downstream_gene_variant SKCA-BR 3 100424129 100424129 single base substitution C T upstream_gene_variant SKCA-BR 3 100425553 100425553 single base substitution C T upstream_gene_variant SKCA-BR 3 100428116 100428116 single base substitution G A upstream_gene_variant SKCA-BR 3 100428126 100428126 single base substitution G A upstream_gene_variant SKCA-BR 3 100428328 100428328 single base substitution T C 5_prime_UTR_variant SKCA-BR 3 100428328 100428328 single base substitution T C intron_variant SKCA-BR 3 100428328 100428328 single base substitution T C upstream_gene_variant SKCA-BR 3 100433298 100433298 single base substitution C T intron_variant SKCA-BR 3 100439670 100439670 single base substitution C T intron_variant SKCA-BR 3 100444190 100444190 single base substitution A G intron_variant SKCA-BR 3 100444466 100444467 deletion of <=200bp CA - intron_variant SKCA-BR 3 100447486 100447486 single base substitution C T intron_variant SKCA-BR 3 100450938 100450938 single base substitution C T downstream_gene_variant SKCA-BR 3 100450938 100450938 single base substitution C T intron_variant SKCA-BR 3 100453283 100453283 single base substitution A T downstream_gene_variant SKCA-BR 3 100453283 100453283 single base substitution A T intron_variant SKCA-BR 3 100453312 100453312 single base substitution C T downstream_gene_variant SKCA-BR 3 100453312 100453312 single base substitution C T intron_variant SKCA-BR 3 100455139 100455139 single base substitution T C downstream_gene_variant SKCA-BR 3 100455139 100455139 single base substitution T C intron_variant SKCA-BR 3 100458275 100458275 single base substitution A C intron_variant SKCA-BR 3 100458275 100458275 single base substitution A C upstream_gene_variant SKCA-BR 3 100458835 100458835 single base substitution C T intron_variant SKCA-BR 3 100458835 100458835 single base substitution C T upstream_gene_variant SKCA-BR 3 100462011 100462011 single base substitution G T exon_variant SKCA-BR 3 100462011 100462011 single base substitution G T intron_variant SKCA-BR 3 100468101 100468101 insertion of <=200bp - TAGTG downstream_gene_variant SKCA-BR 3 100468103 100468103 insertion of <=200bp - GTGAGTGATTTTCCTTCTCAGATAAAAGGTATAGTT downstream_gene_variant SKCM-US 3 100438853 100438853 single base substitution C T synonymous_variant D73D 219C>T SKCM-US 3 100447693 100447693 single base substitution C T downstream_gene_variant SKCM-US 3 100447693 100447693 single base substitution C T missense_variant P136S 406C>T SKCM-US 3 100455446 100455446 single base substitution C T downstream_gene_variant SKCM-US 3 100455446 100455446 single base substitution C T missense_variant R203C 607C>T SKCM-US 3 100467173 100467173 single base substitution C T exon_variant SKCM-US 3 100467173 100467173 single base substitution C T missense_variant S330F 989C>T SKCM-US 3 100467173 100467173 single base substitution C T missense_variant S334F 1001C>T SKCM-US 3 100469349 100469349 single base substitution C T downstream_gene_variant SKCM-US 3 100469405 100469405 single base substitution A G downstream_gene_variant STAD-US 3 100463762 100463762 single base substitution T C exon_variant STAD-US 3 100463762 100463762 single base substitution T C synonymous_variant G265G 795T>C STAD-US 3 100463762 100463762 single base substitution T C synonymous_variant G269G 807T>C STAD-US 3 100467241 100467241 single base substitution T C exon_variant STAD-US 3 100467241 100467241 single base substitution T C missense_variant Y353H 1057T>C STAD-US 3 100467241 100467241 single base substitution T C missense_variant Y357H 1069T>C STAD-US 3 100469446 100469446 single base substitution T C downstream_gene_variant STAD-US 3 100471644 100471644 single base substitution G A downstream_gene_variant THCA-SA 3 100468500 100468500 single base substitution C T downstream_gene_variant UCEC-US 3 100432650 100432650 single base substitution C T stop_gained Q41* 121C>T UCEC-US 3 100432653 100432653 single base substitution C T stop_gained R42* 124C>T UCEC-US 3 100432707 100432707 single base substitution G T missense_variant D60Y 178G>T UCEC-US 3 100463734 100463734 single base substitution C T exon_variant UCEC-US 3 100463734 100463734 single base substitution C T missense_variant A256V 767C>T UCEC-US 3 100463734 100463734 single base substitution C T missense_variant A260V 779C>T UCEC-US 3 100470399 100470399 single base substitution C A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand WSU-HN8 COSM4602654 c.313C>T p.L105F Substitution - Missense 3:100728756-100728756 + HT115 COSM1417373 c.68G>A p.R23Q Substitution - Missense 3:100713753-100713753 + HCC058T COSM5804685 c.674A>T p.Q225L Substitution - Missense 3:100736669-100736669 + YUKAT COSM5397670 c.678G>A p.Q226Q Substitution - coding silent 3:100736673-100736673 + Gp5D COSM2914895 c.1176T>C p.Y392Y Substitution - coding silent 3:100748504-100748504 + TCGA-AP-A059-01 COSM1035650 c.121C>T p.Q41* Substitution - Nonsense 3:100713806-100713806 + PTC-7C COSM4157088 c.846T>C p.P282P Substitution - coding silent 3:100748174-100748174 + RK306_C01 COSM4964183 c.166A>G p.I56V Substitution - Missense 3:100713851-100713851 + TCGA-AA-3715-01 COSM270333 c.1147C>T p.R383C Substitution - Missense 3:100748475-100748475 + ESO-539 COSM1267689 c.607C>T p.R203C Substitution - Missense 3:100736602-100736602 + ESCC_131 COSM5642258 c.382G>A p.E128K Substitution - Missense 3:100728825-100728825 + TCGA-AP-A0LM-01 COSM1035652 c.178G>T p.D60Y Substitution - Missense 3:100713863-100713863 + TCGA-AN-A046-01 COSM3845635 c.963G>A p.A321A Substitution - coding silent 3:100748291-100748291 + BN22T COSM3660049 c.301C>T p.Q101* Substitution - Nonsense 3:100728744-100728744 + CSCC-19-T COSM3766814 c.1153C>T p.R385C Substitution - Missense 3:100748481-100748481 + YUWAND COSM1693092 c.337C>T p.R113* Substitution - Nonsense 3:100728780-100728780 + LUAD-S01346 COSM397739 c.433G>T p.E145* Substitution - Nonsense 3:100732525-100732525 + TCGA-K7-A6G5-01 COSM4939361 c.1194T>G p.G398G Substitution - coding silent 3:100748522-100748522 + DLD1 COSM4624898 c.353G>A p.R118H Substitution - Missense 3:100728796-100728796 + T578 COSM4733292 c.417T>A p.D139E Substitution - Missense 3:100732509-100732509 + TCGA-43-3394-01 COSM726636 c.315C>G p.L105L Substitution - coding silent 3:100728758-100728758 + TCGA-DK-A3IV-01 COSM1308304 c.726G>C p.Q242H Substitution - Missense 3:100744837-100744837 + TCGA-FW-A3R5-06 COSM3914377 c.1001C>T p.S334F Substitution - Missense 3:100748329-100748329 + LUAD-RT-S01477 COSM377630 c.557G>T p.G186V Substitution - Missense 3:100732649-100732649 + LC_C15 COSM1186358 c.882A>C p.Q294H Substitution - Missense 3:100748210-100748210 + 587342 COSM1229050 c.1145C>T p.A382V Substitution - Missense 3:100748473-100748473 + TCGA-G4-6586-01 COSM5178184 c.582G>A p.G194G Substitution - coding silent 3:100736577-100736577 + TCGA-AG-3592-01 COSM3426825 c.169A>C p.K57Q Substitution - Missense 3:100713854-100713854 + ACINAR29 COSM1732737 c.741C>A p.Y247* Substitution - Nonsense 3:100744852-100744852 + ESO-187 COSM1267688 c.80A>G p.H27R Substitution - Missense 3:100713765-100713765 + Gp2D COSM2914895 c.1176T>C p.Y392Y Substitution - coding silent 3:100748504-100748504 + BN37T COSM1616651 c.215C>T p.S72F Substitution - Missense 3:100720005-100720005 + 169 COSM3728569 c.348G>A p.V116V Substitution - coding silent 3:100728791-100728791 + TCGA-BR-6452-01 COSM4111790 c.1069T>C p.Y357H Substitution - Missense 3:100748397-100748397 + ESCC_42 COSM5629725 c.528A>T p.E176D Substitution - Missense 3:100732620-100732620 + YURIDA COSM1693093 c.461G>A p.G154E Substitution - Missense 3:100732553-100732553 + RK027_C01 COSM1632663 c.607C>G p.R203G Substitution - Missense 3:100736602-100736602 + TCGA-AA-A010-01 COSM285676 c.1154G>A p.R385H Substitution - Missense 3:100748482-100748482 + TCGA-E9-A1R2-01 COSM1484359 c.1165G>T p.G389C Substitution - Missense 3:100748493-100748493 + CSCC-19-T COSM4457337 c.1040C>T p.P347L Substitution - Missense 3:100748368-100748368 + HCC143T COSM1616652 c.232A>G p.I78V Substitution - Missense 3:100720022-100720022 + TCGA-A6-2679-01 COSM5082400 c.1114A>G p.T372A Substitution - Missense 3:100748442-100748442 + TCGA-G2-A2EC-01 COSM1308305 c.1168C>T p.Q390* Substitution - Nonsense 3:100748496-100748496 + TCGA-FR-A3R1-01 COSM1267689 c.607C>T p.R203C Substitution - Missense 3:100736602-100736602 + TCGA-DK-A3X1-01 COSM3800815 c.46C>T p.Q16* Substitution - Nonsense 3:100713731-100713731 + TCGA-GU-A42R-01 COSM3800817 c.787C>T p.Q263* Substitution - Nonsense 3:100744898-100744898 + TCGA-CA-6717-01 COSM1417374 c.138A>C p.G46G Substitution - coding silent 3:100713823-100713823 + CN-AML-08-T COSM4157088 c.846T>C p.P282P Substitution - coding silent 3:100748174-100748174 + TCGA-BH-A18G-01 COSM3845634 c.24T>C p.S8S Substitution - coding silent 3:100713709-100713709 + 112182 COSM95330 c.1152C>A p.N384K Substitution - Missense 3:100748480-100748480 + TCGA-B4-5836-01 COSM1495249 c.1021G>A p.V341M Substitution - Missense 3:100748349-100748349 + 112032 COSM95737 c.821-2A>T p.? Unknown 3:100748147-100748147 + RK245_C01 COSM4945105 c.167T>G p.I56R Substitution - Missense 3:100713852-100713852 + BN22 COSM3660049 c.301C>T p.Q101* Substitution - Nonsense 3:100728744-100728744 + ESO-0176 COSM1267686 c.118A>T p.M40L Substitution - Missense 3:100713803-100713803 + ESO-1130 COSM1267687 c.539A>G p.N180S Substitution - Missense 3:100732631-100732631 + TCGA-AA-A010-01 COSM285675 c.519C>A p.N173K Substitution - Missense 3:100732611-100732611 + TCGA-CA-6718-01 COSM1417378 c.1199G>A p.R400Q Substitution - Missense 3:100748527-100748527 + sysucc-880T COSM5463185 c.974C>A p.P325H Substitution - Missense 3:100748302-100748302 + KM12 COSM2914886 c.752C>A p.A251D Substitution - Missense 3:100744863-100744863 + T2269 COSM4733291 c.181G>T p.E61* Substitution - Nonsense 3:100713866-100713866 + HCC143 COSM1616652 c.232A>G p.I78V Substitution - Missense 3:100720022-100720022 + Mx30 COSM33148 c.445G>T p.A149S Substitution - Missense 3:100732537-100732537 + sysucc-311T COSM5465658 c.275G>A p.G92D Substitution - Missense 3:100728718-100728718 + TCGA-AZ-4315-01 COSM1417373 c.68G>A p.R23Q Substitution - Missense 3:100713753-100713753 + C086 COSM5540281 c.1139C>T p.P380L Substitution - Missense 3:100748467-100748467 + TCGA-CD-8532-01 COSM4111789 c.807T>C p.G269G Substitution - coding silent 3:100744918-100744918 + 585208 COSM326657 c.625A>G p.S209G Substitution - Missense 3:100736620-100736620 + ACA8 COSM5961457 c.196A>C p.I66L Substitution - Missense 3:100719986-100719986 + S00-35182-TP COSM4991801 c.1075C>T p.P359S Substitution - Missense 3:100748403-100748403 + TCGA-ER-A19M-06 COSM3914376 c.406C>T p.P136S Substitution - Missense 3:100728849-100728849 + CSCC-27-T COSM4518294 c.595_596CC>TT p.P199F Substitution - Missense 3:100736590-100736591 + RK308_C01 COSM3766814 c.1153C>T p.R385C Substitution - Missense 3:100748481-100748481 + PT38 COSM5922377 c.571C>T p.Q191* Substitution - Nonsense 3:100732663-100732663 + TCGA-AY-6197-01 COSM1417377 c.903T>G p.A301A Substitution - coding silent 3:100748231-100748231 + T2940 COSM4733293 c.431G>T p.R144M Substitution - Missense 3:100732523-100732523 + TCGA-BH-A2L8-01 COSM3800815 c.46C>T p.Q16* Substitution - Nonsense 3:100713731-100713731 + TCGA-AA-3977-01 COSM5119209 c.319C>T p.R107* Substitution - Nonsense 3:100728762-100728762 + CSCC-20-T COSM4460304 c.1160C>T p.P387L Substitution - Missense 3:100748488-100748488 + GC10_T COSM150884 c.379_381delGGA p.G127delG Deletion - In frame 3:100728822-100728824 + S04-45633-TP COSM4991800 c.639C>T p.S213S Substitution - coding silent 3:100736634-100736634 + CN-AML-NR-08-Dx COSM4157088 c.846T>C p.P282P Substitution - coding silent 3:100748174-100748174 + TCGA-FS-A1ZZ-06 COSM3584534 c.219C>T p.D73D Substitution - coding silent 3:100720009-100720009 + TCGA-DK-A3X1-01 COSM3800816 c.132C>T p.F44F Substitution - coding silent 3:100713817-100713817 + TCGA-BS-A0UF-01 COSM1035651 c.124C>T p.R42* Substitution - Nonsense 3:100713809-100713809 + 86319 COSM95674 c.475C>T p.Q159* Substitution - Nonsense 3:100732567-100732567 + S06-38853-TP COSM4991799 c.315C>T p.L105L Substitution - coding silent 3:100728758-100728758 + TCGA-D1-A103-01 COSM1035653 c.779C>T p.A260V Substitution - Missense 3:100744890-100744890 + TCGA-JW-A5VL-01 COSM4847510 c.455C>T p.S152F Substitution - Missense 3:100732547-100732547 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.518123 3q12.2 602498 2454229|CGAP|BC001483|A/T|non-coding||1593|Validated; 2454229|CGAP|BC009241|A/T|non-coding||1816|Validated; 2454229|CGAP|BC023599|A/T|non-coding||1575|Validated; 2454230|CGAP|BC001483|C/T|coding|Pro282Pro|935|Candidate; 2454230|CGAP|BC009241|C/T|coding|Pro282Pro|1158|Candidate; 2454230|CGAP|BC023599|C/T|coding|Pro282Pro|917|Candidate; 2454231|CGAP|BC001483|G/T|coding|Ala198Ala|683|Candidate; 2454231|CGAP|BC009241|G/T|coding|Ala198Ala|906|Candidate; 2454231|CGAP|BC023599|G/T|coding|Ala198Ala|665|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.H27R c.80A>G 3 100432609 ESCA A G Missense p.N180S c.539A>G 3 100451475 ESCA A G Missense p.S209G c.625A>G 3 100455464 SCLC - A Nonsense p.Y268*fs*1 c.803dupA 3 100463758 HNSC A T IntronicSNV . c.721+2494A>T 3 100458054 CLL A T Missense p.M40L c.118A>T 3 100432647 ESCA C G Missense p.Q159E c.475C>G 3 100451411 BRCA C G Missense p.R203G c.607C>G 3 100455446 HC C G Synonymous p.L105L c.315C>G 3 100447602 LUSC C T Missense p.R203C c.607C>T 3 100455446 ESCA C T Missense p.S193L c.578C>T 3 100451514 BRCA C T Nonsense p.Q242* c.724C>T 3 100463679 LUAD C T Nonsense p.Q256* c.766C>T 3 100463721 COREAD C T Nonsense p.Q390* c.1168C>T 3 100467340 BLCA C T Synonymous p.D73D c.219C>T 3 100438853 CM G A Synonymous p.P258P c.774G>A 3 100463729 HNSC G C Missense p.Q242H c.726G>C 3 100463681 BLCA G T Missense p.A149S c.445G>T 3 100451381 COREAD G T Missense p.G389C c.1165G>T 3 100467337 BRCA